Update on Six Gene Therapy Clinical Trials Presented at VISIONS 2013

Whether you’re a researcher or affected by a retinal disease, hearing the latest news from the clinical-trial front lines is a great perk of FFB’s annual conference. On the last day of VISIONS 2013, I had the privilege of moderating a compelling update on six gene-therapy clinical trials provided by Shannon Boye, Ph.D., a gene therapy developer at the University of Florida, and Michel Michaelides, M.D., a clinician-researcher at Moorfields Eye Hospital in the United Kingdom. All of these emerging treatments, given in recaps below, were made possible by Foundation funding.

Leber congenital amaurosis (LCA)

Dr. Boye reported that the landmark gene therapy clinical trial for people with LCA (RPE65 mutations) at the Children’s Hospital of Philadelphia (CHOP) has progressed from Phase I/II to Phase III. This moves the therapy a step closer to market approval from the U.S. Food and Drug Administration.

In collaboration with the University of Iowa, the investigators will treat people with better vision than those in the Phase I/II study, as well as children as young as 3. Children as young as 8 were treated in the Phase I/II study.

Also, the patients will receive injections to both eyes over a week’s time. In Phase I/II, second eyes were treated several months after the first eyes.

Sixteen people will receive the therapy in Phase III, and eight will receive a placebo injection. By comparing the treatment group with controls, scientists will get a better sense of how the treatment is affecting the eye. People receiving the placebo will be given the treatment a year later.

Choroideremia

Six patients have received gene therapy for choroideremia in a Phase I/II clinical trial at the John Radcliffe Hospital, Oxford University, in the United Kingdom. Thus far, there have been no reported adverse events and some suggestions of mild increases in retinal sensitivity. The researchers recently began to treat additional patients.

Dr. Michaelides noted that a foot pump was used to carefully control the potentially damaging pressure caused by the therapeutic liquid injected underneath the fovea, the central region of the retina that’s critical to vision and made fragile by disease.

Jean Bennett, M.D., Ph.D., of CHOP, and Ian MacDonald, M.D., of the University of Alberta in Edmonton, are planning to launch their own human studies of gene therapy for choroideremia in the near future. Stay tuned for updates on their efforts.

Stargardt disease

Oxford BioMedica’s Phase I/II clinical trial of its StarGen™ gene therapy is ongoing at Oregon Health & Science University (OHSU) in Portland, Oregon, and the Centre National d’Ophtalmologie des Quinze-Vingts in Paris, France. Twelve people have received the treatment with no safety issues. Dr. Michaelides said that the researchers are progressively increasing the dosage and treating patients with better vision.

Dr. Boye explained that the defective gene in USH1B affects the movement of critical proteins between the inner and outer segments of photoreceptors, which are connected by a very narrow “one-lane highway.” UshStat will hopefully unclog the traffic so the photoreceptors can function normally. She added that the treatment is also delivered to a supportive layer of retinal cells known as the retinal pigment epithelium to bolster the movement of pigments that are important for retinal health and vision.

Wet age-related macular degeneration (AMD)

While there are three effective treatments for wet AMD — all of which inhibit the growth of leaky, vision-robbing blood vessels — they have to be injected into the eye on a regular basis (often monthly) for the life of the patient.

However, as Dr. Michaelides explained, three different companies — Oxford BioMedica, Avalanche Biotech and Genzyme — are developing gene therapies that work similarly to the existing treatments, but are designed to require only a single injection to stop blood vessel growth for several years. While still early, none of the studies have reported any adverse events thus far.

A final fact

More than 150 people have received retinal gene therapies in these studies.

I,am very interested in any clinical Trials concerning Retinitis Pigmentosa. My vision is getting progressively worse. I,am legally blind in both eyes.I would like to volunteer for a clinical trial for stem cell research. Thank you

Hi Alma, thanks for your comment. We would recommend at this time that you visit http://www.ClinicalTrials.gov . On this site, you can search by your disease for clinical trials that you may have the opportunity to be involved in. Each listing will provide more information and some contact resources to learn more.

I also have RP and was diagnosed whenI was 52. It has progressively gotten worse every year. I would also be interested in participating in clinical trials. My blood was sent to the gene institute 4 years ago with hopes of finding out the particular gene that caused RP for me but I still haven’t heard anything back.

On this website, which is maintained by the National Health Institute, you are able to search for RP clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

We hope this information is helpful and encourage you to contact us for additional help or further information if needed at info@fightblindness.org

God bless all medical researchers and doctors involved in finding a cure for all eye/vision related diseases. Our beautiful daughter has retinitis pigmentosa… she is only 10 years old. WE NEED A CURE… SHE, ALONG WITH MILLIONS OF ADULTS AND CHILDREN SUFFERING FROM THE SAME ILLNESS, DESERVES A CURE… Our daughter is so full of life… she dreams of being a singer one day – getting up on stage and singing in front of millions – she also wants to be an actress… she is wonderful, the best thing that has ever happened to my wife and I.

KEEP UP THE GOOD WORK! WE ARE ALL PRAYING FOR YOU! NEVER LOSE HOPE! GOD IS WITH US!!!

While there are both gene therapy and stem cell clinical trials underway for people with Stargardt disease, there are none in Florida at the moment.

Stay tuned to the blog and the Foundation’s Web site, http://www.fightblindness.org, for news on forthcoming clinical trials. While you are on the Web site, you can register for our electronic newsletter, which provides news on research advances and clinical trials.

please help me find a cure for my brother Berty, who is currently 30 years old and has 40% of his eye sight gone. We are looking for a cure pleaseee i dont know what to do. we need to improve his eye sights any way possible.

Thanks for commenting. I’m happy to provide more information and try and find out what options are available to you and your family. Can you provide more information on what condition your brother has?

Is any research being done on LCA where the muted gene is the CRX gene? When success is found for one gene will it have a positive effect and speed up the possibilities of finding cures for other muted genes? Thank you for your dedication.

Dr. Shiming Chen at Washington University in St. Louis is doing CRX-related research. I don’t have a recent update on her progress. Yes, progress in therapy for development of one form of LCA will benefit the development of other LCA therapies. As you may know, gene therapy for LCA caused by RPE65 mutations has worked well in humans – it has restored vision in clinical trial participants. While we don’t know the progress being made for a CRX therapy, we can say that some therapies for LCA will be easier to develop than others. You can try contacting Dr. Chen at Chen@vision.wustl.edu to see if she has more information.

Hello,
my sister is 8 years old, she was diagnosed with leber’s congenitive amaurosis. she has only 5% of eye sight. she had the genetical research made but no known gene responsible for the disease was found. What can we do now?

We often also report out on new news on the research being done for this disease. Please see our blog articles on LCA here (http://goo.gl/GdLlse ), and be sure to check out our ‘other disease’ section on our website, where we often report on LCA research progress (http://goo.gl/Cby99 ). We hope you find this information helpful, and if there is anything else we can provide or if you have additional questions, please email us at info@fightblindness.org.

The Foundation is funding a collaboration between the University of California, Berkeley, and a Netherlands research group to develop a CRB1 gene therapy. The work is still at an early stage and not yet ready for a human study, but they are working toward that goal.

Please help me I am 23. Next week and have been diagnosed with this horrid disease. I no longer drive play football everything has been tracked away from me that I loved and lived for. No help where I come from in Dundee Scotland. I would be available for Ny trials research anything . Please help me. Robbie robertson.

Robbie, thanks for reaching out to us. We are very sorry to hear about your struggles in living with your disease.

We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

My son has Leber’s ( since 12 ). He is now 43 and very successful. Bascom-Palmer Hospital in Florida is doing research on LHON—-specifically Dr.Lam. He has always answered my questions and I always make donations for continued research. You can call me if you like—215-342-2793.

Sorry I didn’t say I have lebers hereditary optic neuropathy was diagnosed on the 17th September. I have been having test nearly all year to fin gout what I had and now we know. Please can anyone help or send me advice where any trials or drugs or treatments. I don’t smoke I am fit and healthy. Robbie robertson.

We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

We presume you mean cone-rod dystrophy, and the short answer is yes – there is a lot of research that may benefit someone with cone-rod, including gene therapies, stem cell treatments and drugs. It may be helpful at some point to have your child genetically screened to try and determine which gene mutation is causing his vision loss. That information will help you understand which emerging treatments may be of the most benefit. We suggest that you visit our Web site and download or genetic testing information to learn more about the process. You can also call us at 1-800-683-5555 for more information.

I have amd , it’s getting worse are there any things that may help. I see a dr. At The university of Virginia And he claims there is nothing out there that is “Ready for prime time “”. I have been researching stem cells and Gene therapy. And hoping something will be available for me soon. Please advise, thank you so much. I would like to add, that I am in very good health except for my AMd. I am suspecting that it is genetic because I never had any bad health habits like smoking drinking etc.. Your response, any response would be a blessing for me.

Thanks for the marvelous posting! I truly enjoyed reading
it, you will be a great author. I will remember to bookmark your blog and
will eventually come back down the road.
I want to encourage you continue your great work, have a nice weekend!

To learn more about the progression of Stargardt disease, The Foundation Fighting Blindness is also conducting a natural history study, referred to as PROSTAR. For more information on PROGSTAR, please see the following link: http://progstar.org/

You may be interested to know that there is a “Stargardt – Macular Degeneration” Facebook page where you can communicate with other families affeced by Stargardt disease. Here is the link:https://www.facebook.com/groups/Stargardts/

I hope you find this information helpful. Please feel free to contact me if you have any other questions or concerns.

Thank you for your support that is enabling the development of new treatments for degenerative retinal disease.

The Foundation Fighting Blindness funds many clinical trials but does not manage the studies and so reaching out to them directly may be the best way for you to find out more about where they are happening and if participating is an option. The website: http://WWW.CLINICALTRIALS.GOV is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

My husband is a strong healthy 53 year old who is quickly losing his vision because of Star gardts disease. He is anxious to participate in any research treatment study. We reside in N.H. Please help. Thank you, Sharon Kurowski.

To learn more about the progression of Stargardt disease, The Foundation Fighting Blindness is also conducting a natural history study, referred to as PROSTAR. For more information on PROGSTAR, please see the following link: http://progstar.org/

You may be interested to know that there is a “Stargardt – Macular Degeneration” Facebook page where you can communicate with other families affeced by Stargardt disease. Here is the link:https://www.facebook.com/groups/Stargardts/

Your should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you find out about clinical trials that are recruiting for your specific disease. For more information on “My Retina Tracker” please see the following web link:https://www.myretinatracker.org/

Clinical research in Ophthalmology is truly one of the most demanded fields of study in the industry. It is exciting to see that we have come so far in this field to conduct gene therapy to correct issues with vision/blindness.

Rod cone dystrophy is another name for retinal diseases that affect the rods first. Retinitis pigmentosa is an example of a rod-cone dystrophy. Your son should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, he may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:https://www.myretinatracker.org/

It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

Medical Disclaimer:The information contained on the Foundation Fighting Blindness web site and other online properties including Eye on the Cure is provided for your general information only. The Foundation does not give medical advice or engage in the practice of medicine. Physicians differ in their approach to incorporating research results into their clinical practice. You should always consult with and be guided by your Physician’s advice when considering treatment based on research results.
All information and content on this web site are protected by copyright.